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Biblio

3 resultats trouvés

Filtres: Auteur is Leduc, Magalie S. [Clear All Filters]

M

Carapito R, Konantz M, Paillard C, Miao Z, Pichot A, Leduc MS, Yang Y, Bergstrom KL, Mahoney DH, Shardy DL et al.. 2017. Mutations in signal recognition particle SRP54 cause syndromic neutropenia with Shwachman-Diamond-like features. JOURNAL OF CLINICAL INVESTIGATION. 127:4090-4103.

P

Wang X, Posey JE, Rosenfeld JA, Bacino CA, Scaglia F, Immken LD, Harris JM, Hickey SE, Mosher TM, Slavotinek A et al.. 2018. Phenotypic expansion in DDX3X - a common cause of intellectual disability in females. ANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY. 5:1277-1285.

Z

Carapito R, Ivanova EL, Morlon A, Meng L, Molitor A, Erdmann E, Kieffer B, Pichot A, Naegely L, Kolmer A et al.. 2019. ZMIZ1 Variants Cause a Syndromic Neurodevelopmental Disorder. AMERICAN JOURNAL OF HUMAN GENETICS. 104:319-330.